RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly

American Journal of Medical Genetics. Part a
Sara MumtazSajid Malik

Abstract

Primary microcephaly is clinically variable and genetically heterogeneous. Four phenotypically distinct types of autosomal recessive microcephaly syndromes are due to different RBBP8 mutations. We report on a consanguineous Pakistani family with homozygous RBBP8 mutation c.1808_1809delTA (p.Ile603Lysfs*7) manifesting microcephaly and a distinct combination of skeletal, limb and ectodermal defects, mild intellectual disability, minor facial anomalies, anonychia, disproportionate short stature and brachydactyly, and additionally talipes in one patient.

References

Jan 10, 2002·European Journal of Human Genetics : EJHG·A D BørglumJ M Hertz
Apr 5, 2005·American Journal of Human Genetics·C Geoffrey WoodsWolfgang Enard
Oct 30, 2007·Nature·Alessandro A SartoriStephen P Jackson
Oct 15, 2011·PLoS Genetics·Per QvistAnders D Børglum
Jan 7, 2014·Genome Research·Ranad ShaheenFowzan S Alkuraya

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Citations

May 15, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Nadine N HauerChristian T Thiel

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